A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv801885



Internal ID16095841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:106247520..106248612hg38UCSC Ensembl
Innerchr12:106641298..106642390hg19UCSC Ensembl
Innerchr12:105165428..105166520hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg381093
hg191093
hg181093
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv560080
Supporting Variants
Samples
Known GenesCKAP4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv801885
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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